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{
"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2021",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=2019",
"results": [
{
"created": "2019-12-31T10:50:36.986471+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1D were changed from to Sinoatrial node dysfunction and deafness, MIM# 614896",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:50:16.505356+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:49:51.396747+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CACNA1D were set to ",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:49:27.887383+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1D as Amber List (moderate evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:49:27.876012+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:48:58.347183+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: 21131953, 15357422, 22678062; Phenotypes: Sinoatrial node dysfunction and deafness, MIM# 614896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:48:35.463434+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.23",
"user_name": "Lilian Rudd",
"item_type": "entity",
"text": "reviewed gene: BDP1: Rating: RED; Mode of pathogenicity: None; Publications: 24312468, 25060281; Phenotypes: Non syndromic hearing loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BDP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:11.113763+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PITPNM3 was added\ngene: PITPNM3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PITPNM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PITPNM3 were set to 17377520; 22405330\nPhenotypes for gene: PITPNM3 were set to Cone-rod dystrophy 5, 600977",
"entity_name": "PITPNM3",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:11.035854+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Recessive spastic paraplegia with retinal degeneration",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.956995+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TIMP3 was added\ngene: TIMP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TIMP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TIMP3 were set to Sorsby fundus dystrophy",
"entity_name": "TIMP3",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.880285+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RS1 was added\ngene: RS1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RS1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: RS1 were set to Developmental macular and foveal dystrophy (males with foveal schisis)",
"entity_name": "RS1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.803205+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGRIP1 was added\ngene: RPGRIP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RPGRIP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1 were set to Leber congenital amaurosis 6, 613826; Cone-rod dystrophy 13, 608194",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.725964+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPGR was added\ngene: RPGR was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RPGR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: RPGR were set to Retinitis pigmentosa 3, 300029; Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, 300455; Macular degeneration, X-linked atrophic, 300834; Cone-rod dystrophy, X-linked, 1, 304020",
"entity_name": "RPGR",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.648933+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RP1L1 was added\ngene: RP1L1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RP1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RP1L1 were set to Occult macular dystrophy, 613587",
"entity_name": "RP1L1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.573084+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RLBP1 was added\ngene: RLBP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RLBP1 were set to Fundus albipunctatus; Newfoundland rod - cone dystrophy; Fundus albipunctatus, 136880; Bothnia retinal dystrophy; Retinitis punctata albescens",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.498005+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: RDH12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.421947+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP3 was added\ngene: RBP3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Red,Royal Melbourne Hospital\nMode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBP3 were set to ?Retinitis pigmentosa 66, 615233",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.345810+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPH2 was added\ngene: PRPH2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PRPH2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PRPH2 were set to Leber congenital amaurosis 18, MIM#608133; Macular dystrophy, vitelliform, 3, MIM#608161; Retinitis pigmentosa 7 and digenic form, MIM#608133; Choroidal dystrophy, central areolar 2, MIM#613105; Macular dystrophy, patterned, 1, MIM#169150; Retinitis punctata albescens, MIM#136880",
"entity_name": "PRPH2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.261078+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PROM1 was added\ngene: PROM1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: PROM1 were set to Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657; Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051",
"entity_name": "PROM1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.173686+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDM13 was added\ngene: PRDM13 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: PRDM13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PRDM13 were set to 29258872; 28973654; 26507665\nPhenotypes for gene: PRDM13 were set to Macular dystrophy, North Carolina type, MIM#136550",
"entity_name": "PRDM13",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:10.096256+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OTX2 was added\ngene: OTX2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: OTX2 were set to autosomal-dominant pattern dystrophy of the retinal pigment epithelium; early onset retinal dystrophy; Microphthalmia, syndromic 5, 610125",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.944085+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951; Macular dystrophy with central cone involvement, 616170",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.868470+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPG2 was added\ngene: IMPG2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IMPG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: IMPG2 were set to Retinitis pigmentosa 56; Maculopathy, IMPG2 - related",
"entity_name": "IMPG2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.776746+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPG1 was added\ngene: IMPG1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: IMPG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: IMPG1 were set to Macular dystrophy, vitelliform, 4",
"entity_name": "IMPG1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.699180+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMCN1 was added\ngene: HMCN1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HMCN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HMCN1 were set to Macular Degeneration",
"entity_name": "HMCN1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.618751+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GUCA1B was added\ngene: GUCA1B was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GUCA1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: GUCA1B were set to Retinitis pigmentosa 48, 613827",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.541426+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FSCN2 was added\ngene: FSCN2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FSCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: FSCN2 were set to Retinitis pigmentosa 30, 607921",
"entity_name": "FSCN2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.466639+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ELOVL4 was added\ngene: ELOVL4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457",
"entity_name": "ELOVL4",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.393980+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EFEMP1 was added\ngene: EFEMP1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: EFEMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: EFEMP1 were set to Inherited macular dystrophy (Doyne/dominant drusen)",
"entity_name": "EFEMP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.321073+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DRAM2 was added\ngene: DRAM2 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: DRAM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DRAM2 were set to Cone-rod dystrophy 21, MIM#616502",
"entity_name": "DRAM2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.247826+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTNNA1 was added\ngene: CTNNA1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CTNNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CTNNA1 were set to Macular dystrophy, butterfly-shaped pigmentary, 2, MIM#608970",
"entity_name": "CTNNA1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.172220+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CRB1 was added\ngene: CRB1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB1 were set to Pigmented paravenous chorioretinal atrophy, 172870; Leber congenital amaurosis 8, 613835; Retinitis pigmentosa-12, autosomal recessive, 600105",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:09.093793+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 -3; Achromatopsia-3, 262300; Stargardt Disease, Recessive",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.945435+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CFH was added\ngene: CFH was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Amber,Royal Melbourne Hospital\nMode of inheritance for gene: CFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CFH were set to {Macular degeneration, age-related, 4} 610698; Basal laminar drusen, 126700",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.872137+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CERKL was added\ngene: CERKL was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CERKL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CERKL were set to Retinitis pigmentosa 26, 608380",
"entity_name": "CERKL",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.796603+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280; Hypotrichosis, congenital, with juvenile macular dystrophy, 601553",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.721949+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: C1QTNF5 was added\ngene: C1QTNF5 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: C1QTNF5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: C1QTNF5 were set to Retinal degeneration, late-onset, autosomal dominant, 605670; Retinitis pigmentosa",
"entity_name": "C1QTNF5",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.646295+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BEST1 was added\ngene: BEST1 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: BEST1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: BEST1 were set to Best macular dystrophy, 153700; Vitelliform macular dystrophy, adult-onset, 608161; Vitreoretinochoroidopathy, 193220; Bestrophinopathy, 611809; Maculopathy, bull's-eye; Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 1",
"entity_name": "BEST1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.570269+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCA4 was added\ngene: ABCA4 was added to Macular Dystrophy/Stargardt Disease_RMH. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA4 were set to Retinitis pigmentosa 19, 601718; Fundus flavimaculatus, 248200; Retinal dystrophy, early-onset severe, 248200; Macular degeneration, age-related, 2, 153800; Cone-rod dystrophy 3, 604116; Stargardt disease 1, 248200",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:47:08.521497+11:00",
"panel_name": "Macular Dystrophy/Stargardt Disease_RMH",
"panel_id": 303,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Added panel Macular Dystrophy/Stargardt Disease_RMH",
"entity_name": null,
"entity_type": null
},
{
"created": "2019-12-31T10:45:11.909535+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CABP2 as ready",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:45:11.897855+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cabp2 has been classified as Green List (High Evidence).",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:45:09.493376+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CABP2 were changed from to Deafness, autosomal recessive 93, MIM# 614899",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:44:44.166079+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CABP2 were set to ",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:44:20.591052+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CABP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:43:50.928240+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CABP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 22981119, 31661684, 28183797; Phenotypes: Deafness, autosomal recessive 93, MIM# 614899; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CABP2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:39:32.179423+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADCY1 as ready",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:39:32.167383+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy1 has been classified as Red List (Low Evidence).",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:39:29.522401+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY1 were changed from Deafness, autosomal recessive 44, MIM# 610154 to Deafness, autosomal recessive 44, MIM# 610154",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:38:41.245740+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:38:21.281344+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADCY1 were set to ",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:37:32.002163+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:37:03.983600+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADCY1 as Red List (low evidence)",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:37:03.970561+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adcy1 has been classified as Red List (Low Evidence).",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:36:35.585128+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ADCY1: Rating: RED; Mode of pathogenicity: None; Publications: 24482543; Phenotypes: Deafness, autosomal recessive 44, MIM# 610154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ADCY1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:32:39.357369+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from Baraitser-Winter syndrome; Deafness-dystonia syndrome to Baraitser-Winter syndrome; Deafness-dystonia syndrome",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:32:21.825872+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:32:21.811978+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:32:14.687114+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome; Deafness-dystonia syndrome",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:31:37.951158+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTB were set to ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:31:13.515478+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: ACTB was changed from to Other",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:30:43.181544+11:00",
"panel_name": "Deafness_MelbourneGenomics_VCGS",
"panel_id": 209,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:22:02.803842+11:00",
"panel_name": "Autism_VCGS",
"panel_id": 51,
"panel_version": "0.18",
"user_name": "Seb L",
"item_type": "entity",
"text": "gene: SHANK1 was added\ngene: SHANK1 was added to Autism_VCGS. Sources: Literature\nMode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SHANK1 were set to 25188300; 22503632\nPenetrance for gene: SHANK1 were set to unknown\nReview for gene: SHANK1 was set to GREEN\nAdded comment: SHANK1 missense and deletion variants have been described in multiple male patients (>10) with autism spectrum disorder. Several of the patients analysed in detail had normal intellect using various different IQ tests, with mild to moderately severe ADI-R scores for social, verbal, non-verbal and repetitive behaviour (Leblond et al 2014). \nSources: Literature",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:19:55.504113+11:00",
"panel_name": "Intellectual disability, syndromic and non-syndromic_GHQ_VCGS",
"panel_id": 250,
"panel_version": "0.1450",
"user_name": "Seb L",
"item_type": "entity",
"text": "reviewed gene: SHANK1: Rating: RED; Mode of pathogenicity: None; Publications: 22503632, 25188300; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:00:46.635889+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CRB2 as ready",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:00:46.623606+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:00:44.240999+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CRB2 as Green List (high evidence)",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:00:44.228668+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: crb2 has been classified as Green List (High Evidence).",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-12-31T10:00:34.534690+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CRB2 was added\ngene: CRB2 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert list\nMode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CRB2 were set to 25557780\nPhenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease, MIM#\t219730\nReview for gene: CRB2 was set to GREEN\nAdded comment: Three unrelated families described. \nSources: Expert list",
"entity_name": "CRB2",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:58:05.046976+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A1 as ready",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:58:05.001326+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:58:01.944868+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A1 as Green List (high evidence)",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:58:01.933957+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a1 has been classified as Green List (High Evidence).",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:57:51.959627+11:00",
"panel_name": "Renal macrocystic disease_KidGen_VCGS",
"panel_id": 194,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: COL4A1 was added\ngene: COL4A1 was added to Renal macrocystic disease_KidGen_VCGS. Sources: Expert list\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A1 were set to 25719457; 15882279\nPhenotypes for gene: COL4A1 were set to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#\t611773\nReview for gene: COL4A1 was set to GREEN\nAdded comment: Large renal cysts described in multiple individuals with this condition. \nSources: Expert list",
"entity_name": "COL4A1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:53:07.213848+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP120 as ready",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:53:07.197345+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep120 has been classified as Green List (High Evidence).",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:52:57.134903+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP120 were changed from to Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:52:44.177889+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEP120 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:52:33.153808+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP120: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:58.637498+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C5orf42 as ready",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:58.625891+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Red List (Low Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:56.325933+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C5orf42 were changed from to Joubert syndrome 17, MIM#614615; Orofaciodigital syndrome VI, MIM# 277170",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:44.710674+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5orf42 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:35.590328+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C5orf42 as Red List (low evidence)",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:35.577679+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c5orf42 has been classified as Red List (Low Evidence).",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:48:25.955738+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C5orf42: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 17, MIM#614615, Orofaciodigital syndrome VI, MIM# 277170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:42:46.303574+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C2CD3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Orofaciodigital syndrome XIV, MIM# 615948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:52.324439+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBIP1 as ready",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:52.312311+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:49.421056+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBIP1 were changed from to Bardet-Biedl syndrome 18, MIM#615995",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:45.304593+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BBIP1 were set to ",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:22.493254+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BBIP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:13.012942+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BBIP1 as Amber List (moderate evidence)",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:39:13.002104+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbip1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BBIP1",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:38:29.887060+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATXN10 as ready",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:38:29.874636+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atxn10 has been classified as Red List (Low Evidence).",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:38:27.373993+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATXN10 were changed from to Nephronophthisis",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:38:23.489230+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ATXN10 were set to ",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:38:01.299599+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATXN10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATXN10",
"entity_type": "gene"
},
{
"created": "2019-12-31T09:37:51.886382+11:00",
"panel_name": "Renal ciliopathies and nephronophthisis_KidGen_VCGS",
"panel_id": 193,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATXN10 as Red List (low evidence)",
"entity_name": "ATXN10",
"entity_type": "gene"
}
]
}